Property Summary

NCBI Gene PubMed Count 15
Grant Count 5
R01 Count 5
Funding $298,982
PubMed Score 7.70
PubTator Score 11.76

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
Atopic dermatitis 1.400 0.013
interstitial cystitis -2.200 0.006
lung adenocarcinoma -1.300 0.000
lung carcinoma -1.900 0.000
non-small cell lung carcinoma -1.200 0.000
gastric carcinoma -2.000 0.018

 GWAS Trait (1)

Gene RIF (10)

PMID Text
22226732 The collagen VI alpha5 chain is selectively localized at the basement membrane of myotendinous junctions.
21353297 Our results suggest that COL29A1 is unlikely to contain genetic variants that have a major effect on eczema or atopy susceptibility.
20882040 localization of alpha5, and to a lesser extent alpha6, is restricted to the papillary dermis, where the protein mainly colocalizes with collagen fibrils; both chains were found around blood vessels
20649719 The role of the COL29A1 gene as an atopic dermatitis gene was not supported. Also, COL29A1 did not play a substantial role in the pathogenesis of chronic obstructive pulmonary disease or asthma.
20649719 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19961619 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18839421 unlike eczema, genetic variation at COL29A1 and IL31 loci is unlikely to impact inflammatory bowel disease risk
18400749 The discovery of three additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular matrix.
17850181 To identify the underlying atopic dermatitis disease gene, a dense map of microsatellite markers and single nucleotide polymorphisms was used, and association with AD was detected.

AA Sequence

MKILLIIFVLIIWTETLADQSPGPGPVYADVVFLVDSSDHLGPKSFPFVKTFINKMINSLPIEANKYRVA      1 - 70
LAQYSDEFHSEFHLSTFKGRSPMLNHLKKNFQFIGGSLQIGKALQEAHRTYFSAPINGRDRKQFPPILVV     71 - 140
LASAESEDEVEEASKALQKDGVKIISVGVQKASEENLKAMATSHFHFNLRTIRDLSTFSQNMTQIIKDVT    141 - 210
KYKEGAVDADMQVHFPISCQKDSLADLVFLVDESLGTGGNLRHLQTFLENITSSMDVKENCMRLGLMSYS    211 - 280
NSAKTISFLKSSTTQSEFQQQIKNLSIQVGKSNTGAAIDQMRRDGFSESYGSRRAQGVPQIAVLVTHRPS    281 - 350
DDEVHDAALNLRLEDVNVFALSIQGANNTQLEEIVSYPPEQTISTLKSYADLETYSTKFLKKLQNEIWSQ    351 - 420
ISTYAEQRNLDKTGCVDTKEADIHFLIDGSSSIQEKQFEQIKRFMLEVTEMFSIGPDKVRVGVVQYSDDT    421 - 490
EVEFYITDYSNDIDLRKAIFNIKQLTGGTYTGKALDYILQIIKNGMKDRMSKVPCYLIVLTDGMSTDRVV    491 - 560
EPAKRLRAEQITVHAVGIGAANKIELQEIAGKEERVSFGQNFDALKSIKNEVVREICAEKGCEDMKADIM    561 - 630
FLVDSSWSIGNENFRKMKIFMKNLLTKIQIGADKTQIGVVQFSDKTKEEFQLNRYFTQQEISDAIDRMSL    631 - 700
INEGTLTGKALNFVGQYFTHSKGARLGAKKFLILITDGVAQDDVRDPARILRGKDVTIFSVGVYNANRSQ    701 - 770
LEEISGDSSLVFHVENFDHLKALERKLIFRVCALHDCKRITLLDVVFVLDHSGSIKKQYQDHMINLTIHL    771 - 840
VKKADVGRDRVQFGALKYSDQPNILFYLNTYSNRSAIIENLRKRRDTGGNTYTAKALKHANALFTEEHGS    841 - 910
RIKQNVKQMLIVITDGESHDHDQLNDTALELRNKGITIFAVGVGKANQKELEGMAGNKNNTIYVDNFDKL    911 - 980
KDVFTLVQERMCTEAPEVCHLQEADVIFLCDGSDRVSNSDFVTMTTFLSDLIDNFDIQSQRMKIGMAQFG    981 - 1050
SNYQSIIELKNSLTKTQWKTQIQNVSKSGGFPRIDFALKKVSNMFNLHAGGRRNAGVPQTLVVITSGDPR   1051 - 1120
YDVADAVKTLKDLGICVLVLGIGDVYKEHLLPITGNSEKIITFQDFDKLKNVDVKKRIIREICQSCGKTN   1121 - 1190
CFMDIVVGFDISTHVQGQPLFQGHPQLESYLPGILEDISSIKGVSCGAGTEAQVSLAFKVNSDQGFPAKF   1191 - 1260
QIYQKAVFDSLLQVNVSGPTHLNAQFLRSLWDTFKDKSASRGQVLLIFSDGLQSESNIMLENQSDRLREA   1261 - 1330
GLDALLVVSLNTTAHHEFSSFEFGKRFDYRTHLTIGMRELGKKLSQYLGNIAERTCCCTFCKCPGIPGPH   1331 - 1400
GTRGLQAMKGSQGLKGSRGHRGEDGNPGVRGDTGPQGDKGIAGCPGAWGQKGLKGFSGPKGGHGDDGIDG   1401 - 1470
LDGEEGCHGFPGIKGEKGDPGSQGSPGSRGAPGQYGEKGFPGDPGNPGQNNNIKGQKGSKGEQGRQGRSG   1471 - 1540
QKGVQGSPSSRGSRGREGQRGLRGVSGEPGNPGPTGTLGAEGLQGPQGSQGNPGRKGEKGSQGQKGPQGS   1541 - 1610
PGLMGAKGSTGRPGLLGKKGEPGLPGDLGPVGQTGQRGRQGDSGIPGYGQMGRKGVKGPRGFPGDAGQKG   1611 - 1680
DIGNPGIPGGPGPKGFRGLALTVGLKGEEGSRGLPGPPGQRGIKGMAGQPVYSQCDLIRFLREHSPCWKE   1681 - 1750
KCPAYPTELVFALDNSYDVTEESFNKTRDIITSIVNDLNIRENNCPVGARVAMVSYNSGTSYLIRWSDYN   1751 - 1820
RKKQLLQQLSQIKYQDTTEPRDVGNAMRFVTRNVFKRTYAGANVRRVAVFFSNGQTASRSSIITATMEFS   1821 - 1890
ALDISPTVFAFDERVFLEAFGFDNTGTFQVIPVPPNGENQTLERLRRCALCYDKCFPNACIREAFLPEDS   1891 - 1960
YMDVVFLIDNSRNIAKDEFKAVKALVSSVIDNFNIASDPLISDSGDRIALLSYSPWESSRRKMGTVKTEF   1961 - 2030
DFITYDNQLLMKNHIQTSFQQLNGEATIGRALLWTTENLFPETPYLRKHKVIFVVSAGENYERKEFVKMM   2031 - 2100
ALRAKCQGYVIFVISLGSTRKDDMEELASYPLDQHLIQLGRIHKPDLNYIAKFLKPFLYSVRRGFNQYPP   2101 - 2170
PMLEDACRLINLGGENIQNDGFQFVTELQEDFLGGNGFIGQELNSGRESPFVKTEDNGSDYLVYLPSQMF   2171 - 2240
EPQKLMINYEKDQKSAEIASLTSGHENYGRKEEPDHTYEPGDVSLQEYYMDVAFLIDASQRVGSDEFKEV   2241 - 2310
KAFITSVLDYFHIAPTPLTSTLGDRVAVLSYSPPGYMPNTEECPVYLEFDLVTYNSIHQMKHHLQDSQQL   2311 - 2380
NGDVFIGHALQWTIDNVFVGTPNLRKNKVIFVISAGETNSLDKDVLRNVSLRAKCQGYSIFVFSFGPKHN   2381 - 2450
DKELEELASHPLDHHLVQLGRTHKPDWNYIIKFVKPFVHLIRRAINKYPTEDMKATCVNMTSPNPENGGT   2451 - 2520
ENTVLLLPGIYEIKTENGDLFDEFDSQAQHLLVLGNNHSSGSETATDLMQKLYLLFSTEKLAMKDKEKAH   2521 - 2590
LEEISALVVDKQQEKEDKEMEATDI                                                2591 - 2615
//

Text Mined References (16)

PMID Year Title
24348519 2013 EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
23869615 2013 The expanded collagen VI family: new chains and new questions.
22261194 2012 Proteomics analysis of cardiac extracellular matrix remodeling in a porcine model of ischemia/reperfusion injury.
22226732 2012 Expression of collagen VI ?5 and ?6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.
21353297 2011 A comprehensive analysis of the COL29A1 gene does not support a role in eczema.
20882040 2011 Expression of the collagen VI ?5 and ?6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.
20649719 2010 Variation in the COL29A1 gene in German patients with atopic dermatitis, asthma and chronic obstructive pulmonary disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19961619 2009 A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).
19478074 2009 Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosome.
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